Chromosome 6 open reading frame 47 (C6orf47)

Chromosome 6 open reading frame 47 (C6orf47) encodes a protein found in the MHC class III locus on 6p21.33 and is predicted to be a trispanin transmembrane protein mainly localized in the endoplasmic reticulum[1][3][5]. It is ubiquitously (but variably) expressed across tissues, with highest RNA levels in the salivary gland and cerebellum, and is overexpressed in colon, bladder, ovary, and pancreas[1]. The function of C6orf47 is poorly characterized; available data suggest it may modulate immune or inflammatory processes, but it is not essential in macrophage lipid metabolism or hypoxic response—expression falls rather than rises under hypoxic conditions[1]. The protein is enriched in leucine, proline, and glycine, and contains three conserved transmembrane domains. Post-translational modifications include phosphorylation (sites: 34, 35, 71, 90), sumoylation (75, 114, 147), and O-linked β-N-acetylglucosamine (site: 60)[1]. The only reported molecular interaction is with fibroblast growth factor receptor 3 (FGFR3), detected at medium confidence through a two-hybrid assay[1]; the relevance of this interaction is unknown. Genetic variants in the C6orf47 locus have been implicated in susceptibility to celiac disease and potentially to non-Hodgkin’s lymphoma and early menopause, but this association is by genomic proximity and interlocus interaction, not by confirmed protein function[3]. There are no pathogenic single nucleotide polymorphisms (SNPs) directly attributable to C6orf47 function[1]. No drugs, mechanisms of action, biomarkers, or safety concerns related to C6orf47 have been reported in scientific literature as of September 2025[1][3][5].

Other names

G4D6S53ENG34Protein G4

None known; no drug mechanism described for this molecule